MLH1 E13fs

CI-VAR-00000664Explore in graph →NP_000240.1:p.Glu13ArgfsNM_000249.3:c.37delGClinVar 90190 CIViC 725 rs63750081

Curated evidence

Evidence by cancer (1 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–1 of 1 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Malignant Endometrial Neoplasm1
MLH1 E13fs	(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	accepted	EID1788 MLH1 E13fs (c.37del), identified in a case of microsatellite-unstable endometrial cancer, was confirmed to be somatic in a 46 year old female patient (sLS-1) with suspected Lynch Syndrome (LS). The pa… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC	civic

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
90190	Pathogenic	reviewed by expert panel	3	Lynch syndrome; Hereditary cancer-predisposing syndrome	germline	2	Sep 05, 2013	clinvar